Categoría: JMG First
-
Functional annotation with expression validation identifies novel metastasis-relevant genes from post-GWAS risk loci in sporadic colorectal carcinomas
BackgroundColorectal cancer (CRC) is the third highest incidence cancer and is the leading cause of cancer mortality worldwide. Metastasis to distal organ is the major cause of cancer mortality. However, the underlying genetic factors are unclear. This…
-
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
BackgroundThe neurodevelopmental prognosis of anomalies of the corpus callosum (ACC), one of the most frequent brain malformations, varies extremely, ranging from normal development to profound intellectual disability (ID). Numerous genes are known to …
-
CCDC66 mutations are associated with high myopia through affected cell mitosis
BackgroundHigh myopia (HM) refers to an eye refractive error exceeding –5.00 D, significantly elevating blindness risk. The underlying mechanism of HM remains elusive. Given the extensive genetic heterogeneity and vast genetic base opacity, it is…
-
Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma
BackgroundSurveillance for pancreatic ductal adenocarcinoma (PDAC) is recommended for high-risk individuals with genetic variants in PDAC-associated genes and/or family history. Surveillance uptake and adherence may depend on the perception of PDAC ris…
-
Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1
DNA polymerase epsilon (Pol ), a component of the core replisome, is involved in DNA replication. Although genetic defects of Pol have been reported to cause immunodeficiency syndromes, its role in haematopoiesis remains unknown. Here, we identified c…
-
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews
BackgroundNeurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to N…
-
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
BackgroundThe Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos syndrome (hEDS) remains unknown.MethodsWhole exome sequ…
-
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
BackgroundInherited retinal diseases (IRDs) include a range of vision loss conditions caused by variants in different genes. The clinical and genetic heterogeneity make identification of the genetic cause challenging. Here, a cohort of 491 unsolved cas…
-
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
IntroductionChediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological dysfunction and neurological impairment. Bi-allelic loss-of-function variants in LYS…
-
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees
PurposeMosaic BRCA1 promoter methylation (BRCA1meth) increases the risk of early-onset breast cancer, triple-negative breast cancer and ovarian cancer. As mosaic BRCA1meth are believed to occur de novo, their role in family breast/ovarian cancer has no…